Objectives: Idiopathic inflammatory myopathies (IIMs) are chronic, autoimmune diseases with several forms of presentation. Diagnosis is mostly clinical in our region. Our aim was to evaluate the autoantibody profile of patients with IIMs.
Methods: This study is a cross-sectional study with a prospective recollection of data, conducted between 2019-2021, in a single center in Cali, Colombia. Patients with a clinical diagnosis or suspicion of IIM were included. The presence of myositis-specific/associated antibodies was evaluated by immunoblotting in serum samples. Phenotypic characterization was performed.
Results: A total of 36 patients were included. The mean age was 50.6 (16.7) years, and 20 (55.6%) were female. Eighteen (50%) patients were seropositive, of which 11 (30.5%) presented one positive antibody, with anti-TIF1ɣbeing the most frequent ( = 4, 11.1%), followed by anti-Ro52 ( = 2, 5.6%). Seven patients (19.4%) showed >1 positive antibody. Dermatomyositis was the most frequent type of IIM in seropositive patients ( = 8, 44.4%), followed by anti-synthetase syndrome ( = 4, 22.2%). Weakness was symmetric and presented in the upper and lower extremities in 11 (61.1%) patients each. Both respiratory insufficiency and weight loss were seen in 7 (38.9%) patients, Gottron papules in six (33.3%) patients, and heliotrope rash, esophageal dysmotility, and myalgia in 5 (27.8%) patients. Pulmonary interstitial disease was seen in 4 (22.2%, with antibodies for anti-Ro52, anti-MDA5 + anti-Jo1 + anti-TIF1ɣ, anti-MDA5 + anti-SAE1 + anti-NXP2, and anti-cN1A + anti-Ro52) patients, and malignancy was seen in 2 (11.1%) patients (1 with anti-Mi2β and 1 with anti-TIF1ɣ + anti-Mi2α). In all, 7 (19.4%) patients required intensive care (2 seropositive, 1 with anti-PL7, 1 with anti-MDA5 + anti-Jo1 + anti-TIF1ɣ), and 1 (2.8%) (seronegative) patient died.
Conclusion: This study is the first study in the Southwest of Colombia that evaluates myositis-specific/associated antibodies in IIM. Half of the patients were seropositive. Anti-TIF1ɣwas the most frequent MSA and anti-Ro52 was the most frequent MAA. Several patients presented antibody combinations. Further studies are needed to fully associate phenotypes with antibodies.
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http://dx.doi.org/10.3389/fmed.2022.954937 | DOI Listing |
Virulence
December 2025
Department of Infectious Diseases, Univ Rouen Normandie, Université de Caen Normandie, INSERM, Normandie Univ, DYNAMICURE UMR 1311, CHU Rouen, Rouen, France.
Specific determinants associated with Uropathogenic (UPEC) causing recurrent cystitis are still poorly characterized. Using strains from a previous clinical study (Vitale study, clinicaltrials.gov, identifier NCT02292160) the aims of this study were (i) to describe genomic and phenotypic traits associated with recurrence using a large collection of recurrent and paired sporadic UPEC isolates and (ii) to explore within-host genomic adaptation associated with recurrence using series of 2 to 5 sequential UPEC isolates.
View Article and Find Full Text PDFClin Genet
December 2024
Imagine Institute, Paris, France.
Diagnostic wandering and delayed management are major issues in rare diseases. Here, we report a new Next-Generation Phenotyping (NGP) model for diagnosing Coffin Siris syndrome (CSS) on clinical photographs among controls and distinguish the different genotypes. This retrospective and prospective study, conducted from 1998 to 2023, included frontal and lateral pictures of confirmed CSS.
View Article and Find Full Text PDFTumori
December 2024
Hereditary Digestive Tract Tumors Unit, Department of Surgery, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy.
Background: Lynch syndrome (LS), an autosomal dominant disorder resulting from germline pathogenic variants in DNA mismatch repair genes, poses an elevated risk of developing different types of cancer, particularly colorectal and endometrial. Early identification of LS individuals is vital for implementing preventive measures. This study aims to assess the adherence rate of LS individuals to colorectal surveillance and identify influencing factors.
View Article and Find Full Text PDFJ Vasc Access
December 2024
Department of Surgery II, Vascular and Transplantation Surgery, University Hospital Olomouc, Olomouc, Czech Republic.
Background: This study aimed to evaluate patency outcomes of arteriovenous grafts (AVGs) before and after using Duplex doppler ultrasonography (DUS) in preoperative mapping and surveillance of AVG.
Methods: In this single-centre, retrospective cohort study 212 patients receiving AVGs from January 2009 to December 2022 were included. In group 1, the creation of AVG as well as screening was based on physical examination alone.
Int J Artif Organs
December 2024
Penn State College of Medicine, Hershey, PA, USA.
Ventricular assist device (VAD) and cardiac transplant patients experience significant strain on their physical and mental wellbeing postoperatively. Mental health and substance use disorders (MHDs and SUDs) have substantial effects on the quality of life and compliance of transplant and VAD patients. In this study, we compare and characterize MHDs and SUDs between VAD and cardiac allograft patients and transplant list patients with and without VADs.
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